ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA112122
Gene: CPLANE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
31219
ClinVar RCV Id:
RCV000024218
RCV000522403
RCV003444055
RCV002271377
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075561.3:p.Arg1336Trp
CA342791
NM_023073.4:c.4006C>T